Mutations in the CDKL5 (cyclin-dependent kinase-like 5) gene are associated with a severe
epileptic encephalopathy (early infantile epileptic encephalopathy type 2, EIEE2) …

We investigated the manifestations of CMT4C disease in a genetically homogeneous group
of patients homozygous for the recently identified Gypsy founder mutation p. Arg1109X in …

Myoclonus dystonia (DYT11) is a movement disorder caused by loss-of-function mutations
in SGCE and characterized by involuntary jerking and dystonia that frequently improve after …

Myoclonus dystonia is a childhood-onset hyperkinetic movement disorder with a combined
motor and psychiatric phenotype. It represents one of the few autosomal dominant inherited …

Abstract Objective Myoclonus‐dystonia (M‐D) is a hyperkinetic movement disorder, typically
alcohol‐responsive upper body myoclonus and dystonia. The majority of autosomal …

A distinctive seizure type in patients with CDKL5 mutations: Hypermotor-tonic-spasms sequence
| Neurology Skip to main content Skip to main content AAN.com AAN Publications Author …

Inherited myoclonus dystonia (MD) is an autosomal dominant disorder in which we
previously mapped a novel locus to chromosome18p11 (OMIM number: 607488). Since no …

Background: In recent years, the identification of several new dystonia genes has provided
important insights into the nature of this clinically and genetically heterogeneous disorder …

DYTCA is a syndrome that is characterized by predominant dystonia and mild cerebellar
ataxia. We examined two affected siblings with healthy, consanguineous, Turkish parents …

Dystonia is a brain disorder causing involuntary, often painful movements. Apart from a role
for dopamine deficiency in some forms, the cellular mechanisms underlying most dystonias …